Jaime Vengoechea Barrios
- Department of Human Genetics
Associate Professor
-
1365 Clifton Road, NE
Building A, Suite 1500
Atlanta, GA 30322
Overview
I am a Clinical Geneticist with the Division of Medical Genetics. I specialize in clinical genetics for adults, including inherited cancer syndromes, cardiovascular disorders, and hereditary neurologic disorders.
Academic Appointment
- Associate Professor, Emory University
Education
Degrees
- Residency, Combined Internal Medicine and Medical Genetics Programs from Case Western Reserve University
- MD from Pontificia Universidad Javeriana
Research
Publications
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Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
J Patient Rep Outcomes Volume: 8 Page(s): 132
11/13/2024 Authors: Kishnani PS; Byrne BJ; Claeys KG; Daz-Manera J; Dimachkie MM; Kushlaf H; Mozaffar T; Roberts M; Schoser B; Hummel N -
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Am J Hum Genet Volume: 111 Page(s): 1352 - 1369
07/11/2024 Authors: Deb W; Rosenfelt C; Vignard V; Papendorf JJ; Mller S; Wendlandt M; Studencka-Turski M; Cogn B; Besnard T; Ruffier L -
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Lancet Oncol Volume: 25 Page(s): 668 - 682
05/01/2024 Authors: Ercan AB; Aronson M; Fernandez NR; Chang Y; Levine A; Liu ZA; Negm L; Edwards M; Bianchi V; Stengs L -
Isolated cardiomyopathy in a pathogenic X-linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms.
Am J Med Genet A Volume: 194 Page(s): e63475
03/01/2024 Authors: Aljaberi R; Vengoechea J -
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Hum Genet Volume: 143 Page(s): 437 - 453
03/01/2024 Authors: Iwata-Otsubo A; Skraban CM; Yoshimura A; Sakata T; Alves CAP; Fiordaliso SK; Kuroda Y; Vengoechea J; Grochowsky A; Ernste P -
Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant.
Am J Case Rep Volume: 24 Page(s): e941413
11/22/2023 Authors: Ajiboye O; Vengoechea JE; Gupta R; Lomashvili K -
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med Volume: 24 Page(s): 2464 - 2474
12/01/2022 Authors: Sleyp Y; Valenzuela I; Accogli A; Ballon K; Ben-Zeev B; Berkovic SF; Broly M; Callaerts P; Caylor RC; Charles P -
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain Volume: 145 Page(s): 3308 - 3327
09/14/2022 Authors: Scala M; Nishikawa M; Ito H; Tabata H; Khan T; Accogli A; Davids L; Ruiz A; Chiurazzi P; Cericola G -
THINKING OUTSIDE THE MUSCLE: NON-NEUROLOGICAL CLUES IN INHERITED MYOPATHIES, TWO CASE REPORTS
Volume: 66 Page(s): S32 - S32
09/01/2022 Authors: De Leon A; Dhir A; Vengoechea J; Santibanez RG -
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
Lancet Neurol Volume: 20 Page(s): 1027 - 1037
12/01/2021 Authors: Schoser B; Roberts M; Byrne BJ; Sitaraman S; Jiang H; Lafort P; Toscano A; Castelli J; Daz-Manera J; Goldman M